Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024

Preferred Name	optineurin
Synonyms	HIP7 TFIIIA-INTP HYPL NRP FIP-2 FIP2
ID	http://www.orpha.net/ORDO/Orphanet_124021
alternative_term	HIP7 TFIIIA-INTP HYPL NRP FIP-2 FIP2
hasDbXref	OMIM:602432 Reactome:Q96CV9 ClinVar:OPTN Genatlas:OPTN SwissProt:Q96CV9 Ensembl:ENSG00000123240 HGNC:17142
label	optineurin
prefixIRI	ORDO:Orphanet_124021
prefLabel	optineurin
symbol	OPTN
subClassOf	http://www.orpha.net/ORDO/Orphanet_410298

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://www.semanticweb.org/zchero/ontologies/2023/11/SepsisOntology#Optineurin	SEPON	LOOM
http://purl.jp/bio/4/id/201606003397816584	IOBC	LOOM
http://purl.bioontology.org/ontology/OMIM/602432	OMIM	LOOM
http://www.limics.org/hrdo/rdfns#gen_id_16595	HRDO	LOOM
http://purl.obolibrary.org/obo/PR_000011652	PR	LOOM
http://purl.obolibrary.org/obo/PR_000011652	NIFSTD	LOOM
http://purl.obolibrary.org/obo/NCIT_C119642	BERO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C119642	NCIT	LOOM